Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.A17S
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MYOC

NM_000261.2:p.A17S

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].

Fan BJ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.

Pang CP et al.

Investigative Ophthalmology & Visual Science, 2002

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."